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575.1/.2:618.2-056.7-079.7 (1) |
General genetics. General cytogenetics (427) |
Medical sciences (11140) |
SM ISO690:2012 TIHAI, Olga, HADJIU, Svetlana, SPRINCEAN, Mariana, BARBOVA, Natalia, EGOROV, Vladimir, HALABUDENCO, Elena, REVENCO, Ninel. Congenital cerebral malformations in the pregnancies with genetic risc. In: International Congress of Geneticists and Breeders from the Republic of Moldova, Ed. 11, 15-16 iunie 2021, Chişinău. Chișinău, Republica Moldova: Centrul Editorial-Poligrafic al Universităţii de Stat din Moldova, 2021, Ediția 11, p. 64. ISBN 978-9975-933-56-8. DOI: https://doi.org/10.53040/cga11.2021.045 |
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International Congress of Geneticists and Breeders from the Republic of Moldova Ediția 11, 2021 |
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Congresul "International Congress of Geneticists and Breeders from the Republic of Moldova" 11, Chişinău, Moldova, 15-16 iunie 2021 | ||||||
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DOI:https://doi.org/10.53040/cga11.2021.045 | ||||||
CZU: 575.1/.2:618.2-056.7-079.7 | ||||||
Pag. 64-64 | ||||||
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The genetic consultation is one of the most popular and effective methods of congenital and hereditary pathologies’ diagnosis and prevention. Propose: Highlighting of the genetic consultation and prenatal diagnosis of pregnancies with risc of fetuses’ congenital cerebral malformations in early stages of intrauterine development to descrease the incidence of CCM in newborns. Genetic consultation of 732 pregnant women during aa. 2015-2020, which were divided into two groups: a) group I - 312 women with medium and high genetic risk; b) the II group - 420 women with low genetic risk. All pregnant women in the study were exposed to noninvasive prenatal diagnosis (PD): fetal ultrasonography, molecular genetic and biochemical screening. In 53 cases alpha-fetoprotein serum values was elevated. In time examination of the pregnacies with PD noninvasive (fetal ultrasonography) allowed the diagnosis of CCM in 35 cases. During the PD there were detected the following CCM: spina bifida - 6 cases, anencephaly - 4 cases, holoprozencephaly - 5 cases, agenesis of the corpus callosum - 7 cases, ventriculomegaly hydrocephalus - 5 cases, malformation, Dandy-Walker - 4 cases, hidranencephaly - 1 case, schizencefalia - 1 case, lizencefalia - 2 case. The couples were given medical genetic counseling. Taking into consideration the unfavorable prognosis for the children’ life, it was recommended abortion for medical reason in all cases. A prophylactic plan was developed in genetically susceptible families. PD genetic medical consultation helps to reduce the frequency of congenital malformations in newborns and to prevent the birth of children with CCM and AC diagnosed prenatally to 21 weeks gestation. |
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